Canonical Allele Identifier: CA349456088

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544318T>A , CM000664.2:g.178544318T>A GRCh38
NC_000002.11:g.179409045T>A , CM000664.1:g.179409045T>A GRCh37
NC_000002.10:g.179117291T>A NCBI36
NG_011618.3:g.291485A>T , LRG_391:g.291485A>T
NG_051363.1:g.26492T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88207A>T (TTN) ENSP00000343764.6:p.Thr29403Ser
ENST00000342175.11:c.69292A>T (TTN) ENSP00000340554.6:p.Thr23098Ser
ENST00000359218.10:c.69091A>T (TTN) ENSP00000352154.5:p.Thr23031Ser
ENST00000342175.10:c.69292A>T (TTN) ENSP00000340554.6:p.Thr23098Ser
ENST00000342992.10:c.88207A>T (TTN) ENSP00000343764.6:p.Thr29403Ser
ENST00000359218.9:c.69091A>T (TTN) ENSP00000352154.5:p.Thr23031Ser
ENST00000460472.6:c.68716A>T (TTN) ENSP00000434586.1:p.Thr22906Ser
ENST00000589042.5:c.95911A>T (TTN) MANE Select ENSP00000467141.1:p.Thr31971Ser
ENST00000591111.5:c.90988A>T (TTN) ENSP00000465570.1:p.Thr30330Ser
ENST00000615779.4:c.90988A>T (TTN) ENSP00000483597.1:p.Thr30330Ser
NM_001256850.1:c.90988A>T (TTN) NP_001243779.1:p.Thr30330Ser
NM_001267550.2:c.95911A>T (TTN) MANE Select NP_001254479.2:p.Thr31971Ser
NM_003319.4:c.68716A>T (TTN) NP_003310.4:p.Thr22906Ser
NM_133378.4:c.88207A>T (TTN) NP_596869.4:p.Thr29403Ser
NM_133432.3:c.69091A>T (TTN) NP_597676.3:p.Thr23031Ser
NM_133437.4:c.69292A>T (TTN) NP_597681.4:p.Thr23098Ser
NR_038271.1:n.446+20682T>A (TTN-AS1)
NR_038272.1:n.2043+1957T>A (TTN-AS1)
XM_011511729.1:c.95008A>T (TTN) XP_011510031.1:p.Thr31670Ser
XM_011511730.1:c.68902A>T (TTN) XP_011510032.1:p.Thr22968Ser
XM_011511731.1:c.68761A>T (TTN) XP_011510033.1:p.Thr22921Ser
XM_017004819.1:c.94804A>T (TTN) XP_016860308.1:p.Thr31602Ser
XM_017004820.1:c.90202A>T (TTN) XP_016860309.1:p.Thr30068Ser
XM_017004821.1:c.90199A>T (TTN) XP_016860310.1:p.Thr30067Ser
XM_017004822.1:c.87241A>T (TTN) XP_016860311.1:p.Thr29081Ser
XM_017004823.1:c.68857A>T (TTN) XP_016860312.1:p.Thr22953Ser
XM_024453094.1:c.90352A>T (TTN) XP_024308862.1:p.Thr30118Ser
XM_024453095.1:c.90349A>T (TTN) XP_024308863.1:p.Thr30117Ser
XM_024453096.1:c.89782A>T (TTN) XP_024308864.1:p.Thr29928Ser
XM_024453097.1:c.87124A>T (TTN) XP_024308865.1:p.Thr29042Ser
XM_024453098.1:c.87043A>T (TTN) XP_024308866.1:p.Thr29015Ser
XM_024453099.1:c.68806A>T (TTN) XP_024308867.1:p.Thr22936Ser
XM_024453100.1:c.58660A>T (TTN) XP_024308868.1:p.Thr19554Ser